Research output per year
Research output per year
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Dive into the research topics where Kenjiro Kosaki is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
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ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children
Sasaki, M., Sumitomo, N., Shimizu-Motohashi, Y., Takeshita, E., Kurosawa, K., Kosaki, K., Iwama, K., Mizuguchi, T. & Matsumoto, N., 2021 Jan, In: Developmental Medicine and Child Neurology. 63, 1, p. 111-115 5 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
Clinical utility of SARS-CoV-2 whole genome sequencing in deciphering source of infection
Keio Donner Project, 2021 Jan, In: Journal of Hospital Infection. 107, p. 40-44 5 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report
Abe, K., Ueki, A., Urakawa, Y., Kitago, M., Yoshihama, T., Nanki, Y., Kitagawa, Y., Aoki, D., Kosaki, K. & Hirasawa, A., 2021 Dec, In: Hereditary Cancer in Clinical Practice. 19, 1, 5.Research output: Contribution to journal › Article › peer-review
Open Access -
A call for global action for rare diseases in Africa
Baynam, G. S., Groft, S., van der Westhuizen, F. H., Gassman, S. D., du Plessis, K., Coles, E. P., Selebatso, E., Selebatso, M., Gaobinelwe, B., Selebatso, T., Joel, D., Llera, V. A., Vorster, B. C., Wuebbels, B., Djoudalbaye, B., Austin, C. P., Kumuthini, J., Forman, J., Kaufmann, P., Chipeta, J. & 30 others, , 2020 Jan 1, In: Nature genetics. 52, 1, p. 21-26 6 p.Research output: Contribution to journal › Comment/debate › peer-review
2 Citations (Scopus) -
A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles
Fukaishi, T., Minami, I., Masuda, S., Miyachi, Y., Tsujimoto, K., Izumiyama, H., Hashimoto, K., Yoshida, M., Takahashi, S., Kashimada, K., Morio, T., Kosaki, K., Maezawa, Y., Yokote, K., Yoshimoto, T. & Yamada, T., 2020, In: Endocrine journal. 67, 2, p. 211-218 8 p.Research output: Contribution to journal › Article › peer-review
Open Access